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European Journal of Nuclear Medicine... Jan 2011Noninvasive imaging techniques have been used in the past for visualization the functional activity of the bone marrow compartment. Imaging with radiolabelled compounds... (Review)
Review
Noninvasive imaging techniques have been used in the past for visualization the functional activity of the bone marrow compartment. Imaging with radiolabelled compounds may allow different bone marrow disorders to be distinguished. These imaging techniques, almost all of which use radionuclide-labelled tracers, such as (99m)Tc-nanocolloid, (99m)Tc-sulphur colloid, (111)In-chloride, and radiolabelled white blood cells, have been used in nuclear medicine for several decades. With these techniques three separate compartments can be recognized including the reticuloendothelial system, the erythroid compartment and the myeloid compartment. Recent developments in research and the clinical use of PET tracers have made possible the analysis of additional properties such as cellular metabolism and proliferative activity, using (18)F-FDG and (18)F-FLT. These tracers may lead to better quantification and targeting of different cell systems in the bone marrow. In this review the imaging of different bone marrow targets with radionuclides including PET tracers in various bone marrow diseases are discussed.
Topics: Animals; Bone Marrow Diseases; Cell Proliferation; Humans; Radionuclide Imaging
PubMed: 20625724
DOI: 10.1007/s00259-010-1531-0 -
Archives of Orthopaedic and Trauma... May 2024Bone marrow edema (BME) is a frequent MRI finding in patients with knee pain. According to the etiology, BME of the knee can be classified into three main categories:... (Review)
Review
Bone marrow edema (BME) is a frequent MRI finding in patients with knee pain. According to the etiology, BME of the knee can be classified into three main categories: ischemic, mechanic, and reactive. The diagnosis may be difficult, because of the specificity of symptoms and the poor radiographic findings. MRI is the gold standard, showing an area of altered signal of the bone with an high signal intensity on fat-suppressed, T2 weighted images, usually in combination with an intermediate or low signal intensity on T1 weighted images. Bone marrow edema tends to be self-limiting and, in most cases, resolves without any consequences in a varying amount of time. However, since it may evolve to complete joint destruction, early diagnosis and correct treatment are crucial to prevent the articular degeneration. Conservative therapy is the first step, with no weight-bearing for 3 to 6 weeks on the affected side, in combination with the administration of anti-inflammatory drugs or painkillers to manage symptoms. In non-responding forms and more advanced stages, minimally invasive preservative surgery can provide significant results, with subchondroplasty and core decompression being the two main procedures available. Knee arthroplasty, both total (TKA) or unicompartmental (UKA), is the only effective option when the degradation of cartilage is diffuse and in patients with subchondral bone collapse.
Topics: Humans; Edema; Bone Marrow Diseases; Knee Joint; Magnetic Resonance Imaging
PubMed: 38642163
DOI: 10.1007/s00402-024-05332-3 -
Frontiers in Immunology 2024Bone marrow failure (BMF) has become one of the most studied autoimmune disorders, particularly due to its prevalence both as an inherited disease, but also as a result... (Review)
Review
Bone marrow failure (BMF) has become one of the most studied autoimmune disorders, particularly due to its prevalence both as an inherited disease, but also as a result of chemotherapies. BMF is associated with severe symptoms such as bleeding episodes and susceptibility to infections, and often has underlying characteristics, such as anemia, thrombocytopenia, and neutropenia. The current treatment landscape for BMF requires stem cell transplantation or chemotherapies to induce immune suppression. However, there is limited donor cell availability or dose related toxicity associated with these treatments. Optimizing these treatments has become a necessity. Polymer-based materials have become increasingly popular, as current research efforts are focused on synthesizing novel cell matrices for stem cell expansion to solve limited donor cell availability, as well as applying polymer delivery vehicles to intracellularly deliver cargo that can aid in immunosuppression. Here, we discuss the importance and impact of polymer materials to enhance therapeutics in the context of BMF.
Topics: Humans; Polymers; Animals; Bone Marrow Diseases; Bone Marrow Failure Disorders; Biocompatible Materials
PubMed: 38694497
DOI: 10.3389/fimmu.2024.1396486 -
Pathobiology : Journal of... 2019
Topics: Blood Cell Count; Bone Marrow; Bone Marrow Diseases; Humans; Myelodysplastic Syndromes
PubMed: 30476920
DOI: 10.1159/000492023 -
International Journal of Hematology Apr 2016
Topics: Anemia, Aplastic; Bone Marrow; Bone Marrow Diseases; Bone Marrow Failure Disorders; Child; Hematopoietic Stem Cell Transplantation; Hemoglobinuria, Paroxysmal; Humans; Leukemia, Myeloid; Myelodysplastic Syndromes
PubMed: 26899856
DOI: 10.1007/s12185-016-1966-6 -
European Radiology 2000Four factors can be used in MR of bone marrow: fat-water distribution, artifacts induced by bone trabeculae, diffusion, and uptake of contrast media. Fat-water is imaged... (Review)
Review
Four factors can be used in MR of bone marrow: fat-water distribution, artifacts induced by bone trabeculae, diffusion, and uptake of contrast media. Fat-water is imaged using T1-weighted spin-echo, short tau inversion recovery (STIR), and fast STIR, in- and out-of-phase gradient echo, and fat pre-saturation sequences; bone trabeculae by gradient echo with long TE; diffusion by single-shot spin-echo. The injection of contrast media is a more easy and efficient way to improve the specificity. The value and limitations of those sequences are discussed in marrow replacements (metastases, lymphoma, leukemia) and in myeloid hyperplasia or depletion.
Topics: Bone Marrow; Bone Marrow Diseases; Female; Humans; Magnetic Resonance Imaging; Male
PubMed: 10663751
DOI: 10.1007/s003300050038 -
Blood Jan 2015Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients with familial myelodysplastic syndrome/acute myeloid leukemia,... (Comparative Study)
Comparative Study
Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients with familial myelodysplastic syndrome/acute myeloid leukemia, monocytopenia and mycobacterial infections, Emberger syndrome, and dendritic cell, monocyte, B-, and NK-cell deficiency. GATA2 mutations have also been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA). The bone marrow (BM) from patients with GATA2 deficiency is typically hypocellular, with varying degrees of dysplasia. Distinguishing GATA2 patients from those with AA is critical for selecting appropriate therapy. We compared the BM flow cytometric, morphologic, and cytogenetic features of 28 GATA2 patients with those of 32 patients being evaluated for idiopathic AA. The marrow of GATA2 patients had severely reduced monocytes, B cells, and NK cells; absent hematogones; and inverted CD4:CD8 ratios. Atypical megakaryocytes and abnormal cytogenetics were more common in GATA2 marrows. CD34(+) cells were comparably reduced in GATA2 and AA. Using these criteria, we prospectively identified 4 of 32 patients with suspected AA who had features suspicious for GATA2 mutations, later confirmed by DNA sequencing. Our results show that routine BM flow cytometry, morphology, and cytogenetics in patients who present with cytopenia(s) can identify patients for whom GATA2 sequencing is indicated.
Topics: Adult; Anemia, Aplastic; Antigens, CD34; Bone Marrow; Bone Marrow Diseases; Cohort Studies; Cytogenetics; Female; Flow Cytometry; GATA2 Transcription Factor; Humans; Immunohistochemistry; Male; Middle Aged; Mutation; Sequence Analysis, DNA; Young Adult
PubMed: 25359990
DOI: 10.1182/blood-2014-06-580340 -
Clinics in Laboratory Medicine Mar 1999Laboratory diagnosis of inherited bone marrow failure syndromes includes general evaluations, such as blood counts, examination of the peripheral blood smear for... (Review)
Review
Laboratory diagnosis of inherited bone marrow failure syndromes includes general evaluations, such as blood counts, examination of the peripheral blood smear for morphology, and bone marrow aspirates and biopsies, which may help the clinician classify the patient, particularly if there are no characteristic physical anomalies. Specific diagnoses require unique tests that are only available for a few of the diagnoses. The most useful is chromosome breakage in the diagnosis of FA, with gene mutation analysis or mapping about to become the gold standard when all of the FA genes have been cloned. The diagnosis of DC remains clinical at this time, although linkage to Xq28 and skewed maternal X inactivation may be helpful in some families. Laboratory proof of SD may be provided by decreased serum trypsinogen or other evidence of exocrine pancreatic insufficiency. CHH is substantiated when absent central pigment in hair is found and when it is mapped to 9p21-p13. The only mitochondrial syndrome, PS, is proved with demonstration of deleted mitochondrial DNA. RD is diagnosed from blood and marrow studies that demonstrate lack of lymphoid as well as myeloid activity. Amega requires absent or abnormal marrow megakaryocytes; if radii are also absent, the diagnosis is TAR. DBA usually has elevated red-cell ADA, and the DBA locus may map to 19q13. KS is diagnosed in patients who have congenital nonimmune severe neutropenia. Clinical suspicion of particular diagnoses can often be substantiated by laboratory tests of varying specificity.
Topics: Bone Marrow Diseases; Child; Child, Preschool; Hematologic Tests; Humans; Infant; Infant, Newborn; Syndrome
PubMed: 10403077
DOI: No ID Found -
Current Research in Translational... 2023Bone marrow failure syndromes are rare disorders characterized by bone marrow hypocellularity and resultant peripheral cytopenias. The most frequent form is acquired,...
Bone marrow failure syndromes are rare disorders characterized by bone marrow hypocellularity and resultant peripheral cytopenias. The most frequent form is acquired, so-called aplastic anemia or idiopathic aplastic anemia, an auto-immune disorder frequently associated with paroxysmal nocturnal hemoglobinuria, whereas inherited bone marrow failure syndromes are related to pathogenic germline variants. Among newly identified germline variants, GATA2 deficiency and SAMD9/9L syndromes have a special significance. Other germline variants impacting biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, may cause major syndromes including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. Bone marrow failure syndromes are at risk of secondary progression towards myeloid neoplasms in the form of myelodysplastic neoplasms or acute myeloid leukemia. Acquired clonal cytogenetic abnormalities may be present before or at the onset of progression; some have prognostic value and/or represent somatic rescue mechanisms in inherited syndromes. On the other hand, the differential diagnosis between aplastic anemia and hypoplastic myelodysplastic neoplasm remains challenging. Here we discuss the value of cytogenetic abnormalities in bone marrow failure syndromes and propose recommendations for cytogenetic diagnosis and follow-up.
Topics: Humans; Anemia, Aplastic; Bone Marrow Diseases; Bone Marrow Failure Disorders; Myelodysplastic Syndromes; Leukemia, Myeloid, Acute; Chromosome Aberrations; Cytogenetic Analysis; Intracellular Signaling Peptides and Proteins
PubMed: 38016422
DOI: 10.1016/j.retram.2023.103423 -
Musculoskeletal Surgery Aug 2012Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients... (Review)
Review
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of hypoplasia and fat infiltration. Some patients may develop myeloblastic syndrome and acute myeloblastic leukemia. The genetic defect in SDS has been identified in 2002. The osteoporosis is increased in patients with SDS, and also, bone malformations are included among the primary characteristics of the syndrome. The severity and location change with age and sexes. The typical characteristics include the following: secondary ossification centers delayed appearance, metaphysis enlargement and irregularity (very common in childhood, particularly in coastal and femur), growth cartilage progressive thinning and irregularity (possibly asymmetric growth), generalized osteopenia with cortical thinning. We describe a clinical case regarding an SDS patient with severe bone abnormalities and treated surgically for corrective osteotomy. The persistent or intermittent neutropenia that characterized this disease and the consequent risk of infection is a contraindication for short stature correction and limbs lengthening.
Topics: Adolescent; Antibiotic Prophylaxis; Bone Marrow Diseases; Child, Preschool; Contraindications; Dwarfism; Exocrine Pancreatic Insufficiency; External Fixators; Granulocyte Colony-Stimulating Factor; Humans; Immunocompromised Host; Lenograstim; Lipomatosis; Locomotion; Lower Extremity Deformities, Congenital; Male; Neutropenia; Orthopedic Procedures; Osteotomy; Phenotype; Preoperative Care; Recombinant Proteins; Shwachman-Diamond Syndrome; Tibia
PubMed: 22201042
DOI: 10.1007/s12306-011-0174-z